Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000006372 | SCV000267505 | pathogenic | Citrullinemia type II | 2016-03-18 | criteria provided, single submitter | reference population | |
Baylor Genetics | RCV001004531 | SCV001163578 | pathogenic | Neonatal intrahepatic cholestasis due to citrin deficiency | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001247797 | SCV001421241 | pathogenic | Citrin deficiency | 2023-01-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 6004). This premature translational stop signal has been observed in individuals with citrin deficiency (PMID: 12512993, 16449956, 29659898). This variant is present in population databases (rs80338719, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Ser225*) in the SLC25A13 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC25A13 are known to be pathogenic (PMID: 10369257, 14680984, 27405544). |
Victorian Clinical Genetics Services, |
RCV001004531 | SCV002768493 | pathogenic | Neonatal intrahepatic cholestasis due to citrin deficiency | 2022-03-31 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as pathogenic. The following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with neonatal-onset citrullinemia type II (MIM# 605814) and adult-onset citrullinemia type II (MIM#603471). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD (v2) <0.01 for a recessive condition (1 heterozygote, 0 homozygotes). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported as pathogenic multiple times in ClinVar. It has also been reported in multiple individuals with citrin deficiency (PMID: 29659898; 34006251). (SP) 0701 - Other NMD predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity (ClinVar). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |
Baylor Genetics | RCV003472982 | SCV004203619 | pathogenic | Citrullinemia, type II, adult-onset | 2023-10-16 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000006372 | SCV000026554 | pathogenic | Citrullinemia type II | 1999-06-01 | no assertion criteria provided | literature only | |
Gene |
RCV000006372 | SCV000041263 | not provided | Citrullinemia type II | no assertion provided | literature only | ||
Natera, |
RCV001826423 | SCV002079388 | pathogenic | Citrullinemia | 2020-05-18 | no assertion criteria provided | clinical testing |